Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature

• DOI: 10.1007/8904_2016_19
• Publication Date: 2016-11-17T12:38:38Z
• Authors: Alison Christy; William Nyhan; Jenny Wilson
• Keywords: Sudden Death; Subclinical infection

Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism, associated with self-mutilation, dystonia, and chorea. Seizures are uncommon in LND. Patients LND at risk for sudden unexpected death. The etiology this unknown, but appears to occur from a respiratory process. We propose that failure secondary subclinical seizure may lead death these patients.We report case 11-year-old boy who had two episodes nocturnal gasping. second event was immediately followed by 10 min generalized seizure. Upon arrival the hospital, arterial blood gas test revealed severe acidosis. Following aggressive treatment his seizures, patient did well, discharged home on oxcarbazepine rectal diazepam. No further seizures have been noted 1 year follow-up.In review, we hypothesize some cases be due seizure-induced failure, akin epilepsy (SUDEP). suggest screening paroxysmal events; consideration electroencephalography patients presenting distress or failure; more patients. Brief Summary:We present developed acidosis first known seizure, which evolved status epilepticus. predisposition death, provoked (sudden epilepsy, SUDEP).